Variant Details

Variant: esv2720485

Internal ID

9954781

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr2:106262977..106269473	hg38	UCSC Ensembl
Outer	chr2:106879433..106885929	hg19	UCSC Ensembl

Cytoband

2q12.2

Allele length

Assembly	Allele length
hg38	6497
hg19	6497

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6804689, essv6789547, essv6853767, essv6710937, essv6919806, essv6753776, essv6714595, essv6697243, essv6879865, essv6917798, essv6739127, essv6844183, essv6722333, essv6914279, essv6847581, essv6748049, essv6910422, essv6729964, essv6836531, essv6801885, essv6871991, essv6742415, essv6689596, essv6877917, essv6868991, essv6813475, essv6825362, essv6822487, essv6745200, essv6766800, essv6704169, essv6840327, essv6797831, essv6707575, essv6880674, essv6972993, essv6821524, essv6762053, essv6942208, essv6819331, essv6922113, essv6955354, essv6892642, essv6671898, essv6787577, essv6883512, essv6807645, essv6874983, essv6736249, essv6938048, essv6751764, essv6733722, essv6675551, essv6785382

Samples

SSM036, SSM008, SSM083, SSM075, SSM045, SSM064, SSM079, SSM087, SSM038, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM002, SSM041, SSM023, SSM058, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM017, SSM094, SSM032, SSM003, SSM086, SSM085, SSM040, SSM072, SSM015, SSM016, SSM053, SSM005, SSM080, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM043, SSM052, SSM098, SSM049, SSM056, SSM012

Known Genes

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2720485

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	54
Observed Complex	0
Frequency	n/a